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FPP/MSS > Bones and connective tissues > Flashcards

Bones and connective tissues Flashcards

1
Q

synovial joint motions

A

gliding/linear; angular (may be abduction, adduction, flexion, extension, or circumduction); rotation

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2
Q

synovial joint types

A

gliding (surfaces slide across each other), hinge (movement in single plane), pivot (rotation between apposing parts), saddle, ellipsoid/condyloid (knuckle-like; oval face apposes a depression), ball-and-socket; all possess a cavity between the bones comprising the joint; apposing surfaces of each bone are covered by articular cartilage; joint is surrounded by a fibrous capsule that is lined internally with a synovial membrane that secretes lubricative fluid

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3
Q

concentric contraction

A

a type of isotonic contraction; occurs when the muscle shortens

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4
Q

eccentric contraction

A

a type of isotonic contraction; occurs when the muscle lengthens while contracting; involves a controlled but gradual relaxation that generates diminishing force or tension

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5
Q

isotonic contraction

A

when a skeletal muscle changes length as it generates force

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6
Q

isometric contraction

A

when a skeletal muscle creates tension or force without movement or change in length

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7
Q

muscle tone

A

slight amount of contraction that a muscle maintains even when relaxed in a conscious individual; lost when an individual is unconscious or has a nerve lesion causing paralysis

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8
Q

prime mover/agonist

A

the muscle or muscle group primarily responsible for the initiation and execution of a specific action at a joint; may be gravity

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9
Q

antagonist

A

muscle or muscle group that opposes or reverses the action of a prime mover; may act to stabilize the movement of the agonist

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10
Q

synergist

A

muscle or muscle group that assists the prime mover in its action(s); may provide additional pull at the origin, reduce some undesirable movements that the prime mover incidentally induces, hold a bone in place so that the prime mover has a stable base, or produce force simultaneously in a different direction to produce a rotation

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11
Q

fixator/stabilizer

A

a type of synergist that holds a bone in place so that the prime mover has a stable base

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12
Q

electromyography

A

Analysis of motor unit action potentials (MUAPs) and baseline electrical signal at rest in order to assess the health of a muscle and its innervating nerve

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13
Q

hyaline cartilage

A

most common type of cartilage; contains round or oval chondrocytes surrounded by pericellular matrix; usually surrounded by perichondrium; forms nasal, costal, laryngeal, bronchial, and articular cartilage; serves as a template for endochondral ossification; also present in epiphyseal plate cartilage

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14
Q

elastic cartilage

A

yellowish when fresh due to presence of elastin; usually surrounded by perichondrium; forms auricular, auditory, laryngeal, and epiglottal cartilage

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15
Q

articular cartilage

A

a specialized type of hyaline cartilage that has no perichondrium and covers the articulating surfaces of opposing bones in a joint; arranged in three zones - most superficial has collagen fibers arranged parallel to the surface, middle has fibers arranged obliquely, and deepest has fiber arranged perpendicular to the surface with mineralized cartilage matrix; thick band of mineralized matrix (tidemark) separates mineralized zone from more superficial zones

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16
Q

fibrocartilage

A

white and opaque due to predominance of type I collagen; contains bundles of collagen with chondrocytes arranged in a linear fashion parallel to collagen bundles; has no perichondrium; forms intervertebral disks, symphases, tendon insertions, and articular disks; also forms calluses during healing of a bone fracture

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17
Q

chondrocyte

A

cells found in cartilage that are embedded within the cartilage matrix; round, have basophilic cytoplasm, found in clusters called isogenous groups/cell nests; can divide, but less frequently as they age; produce components of cartilage matrix and enzymes that degrade cartilage matrix

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18
Q

aggrecan

A

predominant proteoglycan monomer found in cartilage ground substance; generally bound to a central hyaluronate backbone to form multi molecular proteoglycan aggregates

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19
Q

lacunae

A

cavities between concentric lamellae of bone osteons where osteocytes reside; also used to describe spaces in cartilage matrix where chondrocytes reside

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20
Q

perichondrium

A

outer layer of cartilage elements that encloses the cartilaginous structures; outer part is made of fibrous connective tissue (type I cartilage) secreted by fibroblasts and contains a capillary plexus, nerves, and lymphatics; inner part is made of chondrogenic cells that may become chondroblasts

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21
Q

cartilage-specific collagens

A

fibers that make up the fibrous component of cartilage matrix; give mechanical stability to the ground substance; type II collagen is predominant isoform; also includes types IX, X, and XI

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22
Q

appositional growth

A

type of cartilage growth in which it grows from within; caused by division of chondrocytes followed by separation due to matrix production; important for growth of long bones; generally occurs in young cartilage

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23
Q

interstitial growth

A

type of cartilage growth in which it grows from the surface; caused by chondrogenic cells inside the perichondrium differentiating into chondroblasts that express SOX 9, which subsequently secrete cartilage matrix and become enclosed within in

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24
Q

territorial matrix

A

cartilage matrix found in hyaline cartilage immediately surrounding chondrocytes; contains thin collagen fibers

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25
Q

interterritorial matrix

A

cartilage matrix found in hyaline cartilage in spaces between chondrocytes; contains thick collagen fibers and most of the proteoglycan

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26
Q

proteoglycan

A

contribute to the organic component of bone, along with collagen I and glycoproteins, though they exist in higher amounts in cartilage

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27
Q

glycosaminoglycan

A

macromolecular component of cartilage matrix; proteoglycans attached to core proteins, which are in turn attached to a hyaluronate backbone

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28
Q

hydroxyapatite

A

crystalized calcium phosphate that makes up the inorganic component of bone; forms alongside collagen I fibrils; primary mediator of the hardness of bone

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29
Q

osteoid

A

organic bone matrix; makes up 30% of total bone matrix; consists of type I collagen, proteoglycans, and glycoproteins secreted by osteoblasts; mediates calcification of bone

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30
Q

woven bone

A

AKA primary bone; weak, immature bone that is less organized than secondary bone; seen in developing or regenerating bone; during development, is resorbed and remodeled to produce secondary bone

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31
Q

compact bone

A

areas of bone that are dense and have no cavities; makes up cortical bone, in which 80-90% of volume is calcified; fulfills primarily a mechanical and protective function

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32
Q

trabecular bone

A

AKA spongy or cancellous bone; areas of bone that are highly trabeculated and caveated; 15-25% of volume is calcified, fulfills mainly a metabolic function (calcium reservoir); only makes up 20% of total bone volume but accounts for 80% of bone turnover/remodeling due to higher SA:volume ratio

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33
Q

lamellar bone

A

bone that is made up of osteons organized from concentric lamellae

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34
Q

canaliculi

A

tiny canals within bone osteons that connect lacunae in adjacent lamellae and contain osteocyte dendrites

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35
Q

osteocyte

A

differentiated osteoblasts; occupy lacunae that lie between lamellae of the bone matrix; function as endocrine cells and mechanosensor cells to regulate bone remodeling; communicate with neighboring cells via dendrites and gap junctions; express dental matrix protein 1 (DMP1) and sclerostin (SOST)

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36
Q

osteoblast

A

activated osteoprogenitor cells, located primarily in the inner layer of the periosteum (but some in the endosteum); mediate appositional growth of bone; differentiate under the influence of bone morphogenic proteins (BMPs), and are differentiated from other fibroblasts by the presence of Runx2 (bone master gene transcription factor) and osteocalcin; differentiate under the influence of Wnt/Beta-catenin signaling and RUNX2; primary protein product is type I collagen; also secrete osteoprogegerin (inhibits osteoclast differentiation) and SIBLING family proteins (modulators of mineralization)

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37
Q

osteoclast

A

large multinuclear cells that originate in the bone marrow and differentiate from the monocyte/macrophage lineage based on combinatorial signaling (M-CSF, RANKL, CTR, TRAP); occupy Howship’s lacunae on the endosteal surface of bone; activated by PTH and 1,25-OH-D and inhibited by calcitonin; destroy bone matrix and facilitate remodeling via secretion of protons (acid) and cathepsin-K

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38
Q

ruffled border

A

specialized cellular membrane that osteoclasts use to attach to bone matrix and create a microenvironment in which to resorb bone

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39
Q

Haversian canal

A

central canal in bone osteon surrounded by concentric lamella; transmits blood vessels, nerves, and lymphatics

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40
Q

Volkmann canal

A

canals in bone osteons that are continuous with the Haversian canal and connect adjacent lamellae; transmits blood vessels, nerves, and lymphatics

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41
Q

intramembranous ossification

A

primary method by which flat bones ossify; bone forms from ossification centers, where mesenchymal stem cells condense and differentiate into osteoblasts within reticular connective tissue, which allows deposition of bone matrix and ultimate incorporation of osteocytes into lacunae; process by which fontanelles in neonates are ossified

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42
Q

endochondral ossification

A

primary method by which long bones ossify; osteoblasts deposit bone on pre-existing hyaline cartilage template; begins with a primary ossification center in the diaphysis that leads to intramembranous ossification around the perichondrium; cartilage cells then hypertrophy; this allows osteoblasts to produce bone on calcified cartilage with concomitant cavitation; cycle repeats at epiphyses, where some hyaline cartilage is retained, both as articular cartilage and epiphyseal plate cartilage

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43
Q

epiphyseal plate

A

layer of hyaline cartilage found at the epiphyses of long bones

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44
Q

reserve zone

A

part of the epiphyseal plate; does not participate in bone growth; resident chondrocytes connect the epiphyseal plate to the osseous tissue of the epiphysis

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45
Q

proliferative zone

A

one of the zones of epiphyseal activation in the epiphyseal plate; sustained by IGF-1; makes cartilage matrix (type II collagen)

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46
Q

hypertrophy zone

A

one of the zones of epiphyseal activation in the epiphyseal plate; zone where chondrocytes enter apoptotic phase; susceptible for fractures, and is responsible for 20% of fractures in children

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47
Q

calcification zone

A

one of the zones of epiphyseal activation in the epiphyseal plate; chondrocyte proliferation is inhibited, type X collagen is synthesized, and hydroxyapatite formation begins; strongly basophilic

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48
Q

bone remodeling

A

bone synthesis and removal; occurs throughout the lifespan

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49
Q

bony callus

A

structure synthesized by osteoblasts during repair of bone fractures; replaces the fibrocartilaginous callus previously laid down by fibroblasts and chondroblasts, ultimately replaced by mature bone as it heals

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50
Q

mesenchymal stem cells

A

stem cells that may differentiate into osteoblasts or chondroblasts; population declines with age

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51
Q

osteoarthritis

A

family of degenerative joint diseases; characterized by progressive loss of articular cartilage; symptoms include chronic pain, joint deformity, and eventual disabilty

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52
Q

rheumatoid arthritis

A

disease caused by an inflammatory reaction against the synovium of joints; may lead to destruction of the joint; mediated by cytokines (i.e. IL-1, TNF-alpha) that stimulate release of proteases from chondrocytes and inflammatory cells, resulting in degradation of core proteins in proteoglycan aggregates

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53
Q

osteisis fibrosa cystia

A

a condition in which osteoclasts destroy bone matrix as it is made

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54
Q

Paget’s disease

A

a condition that affects adults over 40 y.o. in which abnormal osteoclasts cause a high rate of remodeling, resulting in an over-abundance of primary/woven bone; can cause pain, nerve entrapment, and weakening of affected areas; remodeling regulation disease

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55
Q

osteoporosis

A

condition characterized by hollow, fragile bones due to osteoclast-mediated resorption that occurs faster than osteogenesis; for every 10% loss in bone mass, the risk of fracture doubles

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56
Q

osteopetrosis

A

condition characterized by growth of dense, heavy bone that lacks lamellar structure (woven bone) due to immature osteoclasts that lack a ruffled membrane; may cause obliteration of bone marrow cavity and subsequent bone marrow suppression

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57
Q

anti-resorptive drugs

A

class of drugs used in the treatment of osteoporosis that prevent bone resorption/osteoclast differentiation; various classes include SERMs, bisphosphonates, and denosumab (binds RANKL)

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58
Q

anabolic drugs

A

class of drugs used in the treatment of osteoporosis that induces osteoblast differentiation; only FDA-approved drug in this class is teriparatide, or PTH 1-34; mimics PTH activity, such that daily spikes (due to daily administration) promote osteoblast induction

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59
Q

BMP-2/BMP-7

A

growth factors that induce stem cells in bone marrow to differentiate into osteoblasts; clinical trials have used recombinant BMPs to assist bone regeneration in patients

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60
Q

bisphosphonates

A

class of anti-resorptive drugs used in the treatment of osteoporosis; examples include alendronate, risedronate, ibandronate

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61
Q

SERMs

A

selective estrogen receptor modulators; class of anti-resorptive drugs used in the treatment of osteoporosis; example includes raloxifene

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62
Q

osteoprotegerin

A

protein secreted by PTH-stimulated MSCs and osteoblasts that inhibits osteoclast development by binding RANKL

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63
Q

RANKL

A

cell surface receptor expressed by PTH-stimulated MSCs that induces osteoclast development

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64
Q

M-CSF

A

cytokine that induces monocyte/macrophage proliferation and contributes to osteoclast development

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65
Q

leptin

A

hormone made by fat cells; induces the CNS to inhibit bone formation

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66
Q

IGF I

A

insulin-like growth factor 1; synthesized by the liver in response to somatotropin signaling

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67
Q

collagen I

A

part of the organic component of bone, along with proteoglycans and glycoproteins; arranged in an anti-helical fashion that helps mediate the hardness of bones

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68
Q

collagen X

A

synthesized by chondrocytes in the calcification zone of the epiphyseal plate; facilitates beginning of hydroxyapatite formation, later replaced by collagen I from osteoblasts

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69
Q

cathepsin-K

A

lysosomal enzyme secreted by osteoclasts that is activated by a low pH and facilitates breakdown of bone matrix during remodeling

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70
Q

parathyroid hormone

A

hormone secreted by the parathyroid that stimulates osteoclasts to facilitate bone resorption and calcium release

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71
Q

calcitonin

A

hormone that inhibits osteoclasts to prevent bone resorption

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72
Q

osteocalcin

A

glycoprotein that is specific to bone and promotes its mineralization

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73
Q

estrogen

A

sex hormone that stimulates somatotropin release from the pituitary gland; estradiol also decreases chondrocyte GAG synthesis

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74
Q

testosterone

A

sex hormone that stimulates somatotropin release from the pituitary gland; also induces chondrocyte GAG synthesis

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75
Q

somatotropin

A

AKA growth hormone; secreted by the pituitary gland in response to estrogen and/or testosterone stimulation; induces the liver to make insulin-like growth factor 1 (IGF-1); also induces chondrocyte GAG synthesis

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76
Q

glycoproteins

A

contribute to the organic component of bone, along with collagen I and proteoglycans; includes glycosylated proteins that promote calcification, esp. osteocalcin

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77
Q

noncollagenous multiadhesive glycoproteins

A

components of cartilage matrix; consist of small regulatory and structural proteins that influence interaction between chondrocytes and the ECM; examples include chondronectin, tenascin, and anchorin CII; clinically valuable as markers of cartilage turnover and degradation

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78
Q

Heinemann size principle

A

in a given movement/muscle contraction, the smallest motor units fire first, followed by recruitment of larger motor units as the firing frequency of the first units increases to a particular threshold

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79
Q

uricosuric

A

drug that increases the rate of excretion of uric acid; class of drugs commonly used in the treatment of gout

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80
Q

disease-modifying anti-rheumatic drugs (DMARDs)

A

class of drugs used in treatment of RA that slow down or stop joint damage; generally biological response modifiers/biologics

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81
Q

allopurinol

A

used in the treatment of gout; structural analog of hypoxanthine, converted to oxypurinol by aldehyde oxidoreductase, inhibits terminal steps in uric acid biosynthesis by blocking xanthine oxidase; oxypurinol has very long half-life; side effects include hypersensitivity rxns, acute gout attacks (decreased plasma uric acid levels mobilizes tissue stores of uric acid - generally co-administered with colchicine or NSAID); inhibits metabolism of azathioprine and mercaptopurine

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82
Q

adalimumab

A

IgG mAb used in the treatment of RA and juvenile idiopathic arthritis; anti-TNF-alpha, binds both soluble and transmembrane forms to prevent it from binding its receptor (binding transmembrane forms may also induce apoptosis of the secreting cell); long half-life; side effects include injection site rxns, increase susceptibility to infection; may be used alone or in combination with methotrexate

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83
Q

colchicine

A

used in the treatment of gout for acute attacks or prophylactically; arrests cell division in G1 by interfering with microtubule formation (blocks polymerization), which inhibits neutrophil activation and migration (i.e. inflammation); rapidly absorbed orally, large volume of distribution, has a narrow therapeutic-toxicity window; metabolized by CYP450s and is a substrate for P-glycoprotein; side effects include GI irritation (affects rapidly-proliferating cells); contraindicated in those with hepatic or renal disease, elderly, and pts taking CYP3A4/P-gp inhibitors

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84
Q

etanercept

A

recombinant fusion protein used in the treatment of RA and juvenile RA; made up of two soluble TNF p75 receptor moieties linked to Fc portion of human IgG; binds soluble TNF-alpha and inhibits its ability to bind its receptor; long half-life; side effects include injection site reactions and increased susceptibility to infection

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85
Q

febuxostat

A

used in the treatment of gout; non-purine xanthine oxidase inhibitor; more potent than allopurinol, more effective in patients with impaired renal function; similar incidence of most side effects (dizziness, diarrhea, headache, nausea) is similar to allopurinol, but incidence of cardiovascular side effects is higher; inhibits metabolism of azathioprine and mercaptopurine

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86
Q

azathioprine

A

immunosuppressive drug used in the treatment of RA; inhibits de novo purine synthesis (6-mercaptopurine prodrug, guanine analog)

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87
Q

pegloticase

A

used in the treatment of gout; pegylated, recombinant form of uricase; converts uric acid to allantoin, an inactive and water-soluble metabolite; side effects include infusion site reactions, gout flare, immune response to PEG; only used in severe cases of gout refractory to other treatment

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88
Q

abatacept

A

fusion protein used in the treatment of adult RA in pts with inadequate response to one or more DMARD/TNF antagonist; contains endogenous ligand CTLA-4, binds CD80 or CD86 on antigen-presenting cells (prevents activation by CD28); long half-life; side effects include injection site rxn, increased susceptibility to infection

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89
Q

probenecid

A

uricosuric drug used in the treatment of gout; increases uric acid excretion by competing with renal tubular acid transport to prevent rate reabsorption (OAT/URAT1); side effects include GI irritation, ineffectiveness in pts with renal insufficiency; contraindicated in pts with uric acid kidney stones; interferes with renal excretion of other drugs that undergo active tubular secretion (esp. weak acids)

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90
Q

rituximab

A

mAb used in the treatment of adult RA in combination with methotrexate in pts with inadequate response to one or more TNF antagonists; anti-CD20, depletes B cells via complement-dependent cytotoxicity and antibody-dependent cytotoxicity; long half-life; side effects include injection site rxns, increased susceptibility to infection

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91
Q

NSAID

A

used for treatment of gout (w/i 24 hrs of onset of acute attack); also used for RA in large doses for long duration, but does not affect disease progression; also used for osteoarthritis

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92
Q

tocilizumab

A

mAb used in the treatment of adult RA (pts who have had inadequate response to one or more TNF antagonists); anti-IL-6R, binds both soluble and membrane-bound receptor to inhibit IL-6-mediated signaling via receptors (normally activates T-cells, B-cells, macrophages, and osteoclasts, mediates hepatic acute phase response); long half-life; side effects include injection site rxn, increase susceptibility to infection, alterations in lipid profile (increases cholesterol and triglycerides)

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93
Q

gout

A

arthritis stemming from a metabolic disorder resulting in elevation of uric acid and inflammatory microcrystals in the joint; more common in women post-menopause; more common in obese individuals; polyarticular gout often affects the PIP and DIP joints; pathology characterized by neutrophils in the synovium/synovial fluid, NSU crystals in cytoplasm of neutrophils

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94
Q

tophaceous gout

A

repetitive episodes of gout leading to significant tophus deposits on articular surfaces that destroy cartilage; punched-out lesions and overhanging edges of joints visible on X-ray

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95
Q

osteomyelitis

A

bone infection; sometimes visible on imaging as a region of lucency, but X-rays tend not to be very sensitive (better to use bone scan or MRI); generally does not cause fever; Tx requires long courses of Abx, surgery (removal of sequestra and/or prostheses); bone must be covered by tissue for treatment to be effective

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96
Q

prosthetic joint infection

A

osteomyelitis resulting from infection of prosthetic material implanted in bone with spread of organisms into adjacent bone; more common in adults; commonly caused by coagulase (-) Staph spp. (like to stick to foreign materials), S. aureus, gram (-), Strep spp.

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97
Q

hematogenous osteomyelitis

A

bone infection resulting from seeding of bone related to a previous bacteremia; more common in children; may be caused by S. aureus, Strep spp., gram (-), Mycobacterium tuberculosis, Salmonella spp. (in sickle-cell pts)

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98
Q

direct implantation osteomyelitis

A

bone infection resulting from a penetrating injury; commonly caused by Pseudomonas when precipitated by injury through a shoe, as Pseudomonas likes to grow in damp areas (such as shoes)

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99
Q

contiguous osteomyelitis

A

bone infection resulting from direct spread of bacteria from an overlying wound or pressure ulcer that is deep with thick exudate; more common in adults; may be related to a diabetic foot ulcer; commonly caused by S. aureus, gram (-), Strep spp., anaerobes, Candida spp.

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100
Q

sequestrum

A

piece of dead bone resulting from osteomyelitis-related damage to periosteum; may get trapped and behave like a foreign body; requires surgical removal

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101
Q

involucrum

A

external bone formation as a reaction to osteomyelitis

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102
Q

Brodie’s abscess

A

bone abscess that develops locally due to osteomyelitis

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103
Q

biofilm

A

aggregation of microorganisms adherent to a surface, esp. hard surfaces; embedded within a matrix (slime, extracellular polymeric substance, glycocalyx); changes organisms’ biochemistry and physiology (compared to planktonic organisms), more likely to be resistant to Abx

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104
Q

rifampin

A

antibiotic that is more effective for treating biofilm organisms

105
Q

vancomycin

A

antibiotic used for treatment of MRSA

106
Q

acetaminophen

A

analgesic drug used in the treatment of osteoarthritis; effect size is small, but the drug is safe

107
Q

tofacitinib

A

drug used in the treatment of RA in pts who have had inadequate response/intolerance to methotrexate; inhibits Janus kinase enzymes; absorbed orally; side effects include increased susceptibility to infection, alterations in lipid profile (increases cholesterol and triglycerides)

108
Q

anakinra

A

recombinant protein used in the treatment of adult RA in pts who have had inadequate response to one or more DMARD; competitive antagonist of IL-1R; short half-life (requires daily SQ administration); may be used alone or in combination with other DMARDs, but NOT with TNF-alpha antagonists

109
Q

duloxetine

A

SNRI approved for treatment of chronic musculoskeletal pain; used in the treatment of osteoarthritis; targets descending inhibitory pain pathways - imbalance of 5-HT and NE has been implicated in chronic pain associated with central sensitization (analgesic effect occurs sooner than the anti-depressant effect and at a lower dose); side effects include nausea, dry mouth, and constipation

110
Q

methotrexate

A

immunosuppressive drug used in the treatment of RA; inhibits de novo purine synthesis

111
Q

hyaluronic acid

A

used for treatment of OA of the knee as joint injection (daily for 3 weeks); polysaccharide composed of glucosamine and glucuronic acid, inhibits inflammatory mediators, decreases cartilage degradation, and promotes cartilage matrix synthesis; side effects include joint inflammation and risk of infection; only used in pts who cannot take NSAIDs or who do not respond to them

112
Q

leflunomide

A

DMARD used in the treatment of RA; inhibits proliferation and activity of T cells and B cells

113
Q

ibuprofen

A

NSAID (propionic acid derivative)

114
Q

naproxen

A

NSAID (propionic acid derivative) used for treatment of gout

115
Q

indomethacin

A

NSAID (acetic acid derivative) used for treatment of gout

116
Q

celecoxib

A

NSAID (diaryl heterocyclic compound) used for the treatment of gout

117
Q

aspirin

A

NSAID (salicylic acid derivative); covalently modifies COX-1 and COX-2, irreversibly inhibits activity; metabolized to salicylate by esterases, esp. in liver; salicylate renal excretion increases when metabolic pathways get saturated; NOT used in treatment of gout, as it blocks uric acid excretion at low doses (may be uricosuric at large doses)

118
Q

capsaicin

A

topical treatment for osteoarthritis; exogenous agonist for TRPV1 receptor, induces release of substance P ultimately depleting neuron stores of substance P/prevents reaccumulation; side effects include transient application site reactions (pain and erythema)

119
Q

chronic papillary synovitis

A

chronic inflammation of the synovium characterized by CD4+ T-cells, plasma cells, macrophages, and giant cells; generally accompanied by synovial cell hyperplasia that creates a papillary pattern on the surface of the synovium with finger-like projections

120
Q

rheumatoid nodules

A

subcutaneous nodules associated with RA that develop in areas of minor trauma/rubbing and those exposed to pressure due to vascular damage; non-tender, firm, round/oval; possess central zone of fibrinoid non-caseating necrosis surrounded epithelioid histiocytes, lymphocytes, and plasma cells

121
Q

glucocorticoid

A

class of anti-inflammatory drugs sometimes used for treatment of RA; suppresses the induced expression of COX-2, inhibits the action of phospholipase A2; blocks cytokine release (IL-1, IL-2, IL-3, IL-6, IL-8, IL-12, TNF-alpha, GM-CSF, IFN-gamma); inhibits IgE-dependent histamine/leukotriene release

122
Q

glucosamine

A

symptomatic slow-acting drug for OA (SYSADOA); aminosaccharide, principle substrate of proteoglycan biosynthesis, contributes to maintenance of cartilage integrity

123
Q

chondroitin

A

symptomatic slow-acting drug for OA (SYSADOA); glycosaminoglycan, maintains viscosity in joints, stimulates cartilage repair mechanisms, and inhibits enzymes that break down cartilage

124
Q

pannus

A

synovial proliferation associated with RA that extends over the articular surface and fills the joint space; behaves like a benign, locally-invasive tumor; over time, destroys articular cartilage and increases osteoclast activity in underlying bone; may cause joint fusion/fibrosis/ossification

125
Q

eburnation

A

complication of advanced osteoarthritis; absence of articular cartilage on bone surface, exposed bone appears polished

126
Q

monoarthritis

A

joint pain affecting only one joint

127
Q

polyarthritis

A

joint pain affecting greater than five joints

128
Q

monosodium urate

A

uric acid metabolize that crystalizes and deposits in joints and other loci throughout the body in gout; birefringent

129
Q

tophi

A

MSU crystal aggregates/deposits throughout the body; generally surrounded by lymphocytes, giant cells, and fibroblasts; common in joints and on the helix of the ear

130
Q

subchondral cyst

A

AKA geodes; areas of periarticular bone matrix degradation characteristic of advanced osteoarthritis; formed by a break in cartilage that allows synovial fluid to enter subchondral space, forms fibrous-walled cyst

131
Q

osteophyte

A

complication of osteoarthritis; bony outgrowth that develops at margins of articular surfaces in characteristic locations for specific joints; results in increased joint size

132
Q

Heberden nodes

A

osteophytes that form on DIP joints in late stage osteoarthritis; paired, seem to reveal phalangeal epicondyles

133
Q

Bouchard nodes

A

osteophytes that form on PIP joints in late stage osteoarthritis; joints appear swollen/depressed

134
Q

soft tissue tumors

A

nonepithelial extraskeletal tumors, excluding reticuloendothelial system, glia, and supporting tissue of parenchymal organs

135
Q

determinants of tumor grade

A

degree of differentiation/pleomorphism, average number of mitoses, extent of necrosis

136
Q

lipoma

A

benign soft tissue tumor originating in adipocytes; most common soft tissue tumor of adulthood; conventional lipomas most common, soft, yellow, well-encapsulated, may possess 12q14-q15 aberrations

137
Q

liposarcoma

A

one of the most common sarcomas of adulthood (40-60 y.o); common in deep soft tissues of proximal extremities and retroperitoneum; pleomorphic variant is aggressive and may metastasize; well-differentiated LPS may possess supernumerary ring chromosomes (amplification of 12q14-q15, containing MDM2); myxoid/round LPS may possess t(12;16), forms FUS-CHOP fusion gene

138
Q

lipoblast

A

regenerative adipocyte; distinguishable histologically based on presence of multiple, smaller fat vacuoles with a more centrally-located nucleus

139
Q

lipoblastoma

A

tumor composed of lipoblasts, most common in children, may possess PLAG1 mutation

140
Q

deep-seated fibromatosis (Desmoid tumor)

A

fibrous tumor with behavior between benign and low-grade fibrosarcoma; most common in young adulthood; frequently recurs after excision; some associated with Gardner syndrome or mutations in APC/beta-catenin genes

141
Q

fibrosarcoma

A

malignant tumors composed of fibroblasts; most common in adults in deep tissues of the thigh, knee, and retroperitoneum; generally aggressive; cells are difficult to stain, all markers but vimentin are negative (intermediate filament present in every mesenchyme-derived cell)

142
Q

rhabdomyosarcoma

A

most common soft tissue sarcoma of childhood and adolescence; most common in head and neck or genitourinary tract; may be embryonal, alveolar, or pleomorphic

143
Q

embryonal rhabdomyosarcoma

A

most common subtype of rhabdomyosarcoma; made up of cells that recapitulate rhabdomyoblasts; often has loss of 11p15 and extra copies of 8, 12, 13, and/or 20; botryoid subtype commonly presents in infant girls as protuberant vaginal lesions (polypoid, gelatinous mass with bunch-of-grapes appearance)

144
Q

alveolar rhabdomyosarcom

A

second-most common subtype of rhabdomyosarcoma; most frequent in adolescence/yound adulthood in deep soft tissues of the extremities; has pathognomonic translocation - t(2;13)/PAX3-FKHR or t(1;13)/PAX7-FKHR

145
Q

synovial sarcoma

A

malignant tumor of unknown histogenesis; 5-10% of all soft tissue sarcomas; most common in young adult males; most occur in deep soft tissue of extremities, especially around the knee; biphasic or monophasic (spindle-shaped cells and/or glandular cells); generally possesses t(X;18) with SYT-SSX1 or SYT-SSX2, diagnosed via cytogenetics; poor prognosis

146
Q

psudosarcomatous proliferations

A

reactive, non-neoplastic lesions that develop in response to some form of local trauma or are idiopathic; develop suddenly and grow rapidly; possess hypercellularity, mitotic activity, and primitive (histologically mimics sarcoma); examples include nodular fasciitis, myositis ossificans

147
Q

synovitis

A

thickening of synovium around joints; tender and squishy with firm palpation

148
Q

rheumatoid arthritis

A

inflammatory symmetric chronic polyarthritis affecting large and small joints; both T cell and B cell involvement; associated with genetic predisposition (HLA-DR), females, and smoking; characterized by proliferation of synovium appearing as a benign, locally-invasive tumor, joint space narrowing, periarticular osteopenia; presents with symmetrical, gradual onset, prolonged morning stiffness, swan neck deformity, boutiniere deformity, nodules, vasculitis

149
Q

osteoarthritis

A

non-inflammatory arthritis characterized by gradual loss of cartilage and development of bony spurs/subchondral cysts at the margins of joints; caused by imbalance in cytokine and growth factor activity; most common in older women, associated with genetics, obesity/diabetes, and trauma; presents with brief morning stiffness with pain that is worse at the end of the day or during use/exercise; tends to target hands and large weight-bearing joints (i.e. hips and knees); imaging may reveal subchondral sclerosis, geodes, and osteophytes

150
Q

fractures

A

breaks in bone; due to anisotropic toughness of bone, transverse cracks are less able to propagate than longitudinal cracks; due to lamellar structure of bone and ability of cement lines between lamellae/osteons to absorb and dissipate force

151
Q

rickets

A

abnormal bone modeling in a growing individual leading to long bones possessing a bowed shape; due to osteomalacia during development; pseudofractures are pathognomonic

152
Q

sclerosteosis

A

disease in which skeletal mass is abnormally high due to mutations in SOST, such that bones perceive that they are being loaded even when they are not (osteocyte disease)

153
Q

osteomalacia

A

disease resulting from inadequate mineralization of bone matrix; may be due to malabsorptive disorders (i.e. celiac disease), vitamin D deficiency/resistance, phosphate wasting disorders, or calcium deficiency; when it occurs in a growing individual, causes rickets; bone cells function normally, but lack the appropriate mineral substrates

154
Q

osteoid osteoma

A

benign bone tumor, generally located at the metaphysis/diaphysis of long bones (esp. femur and tibia, around the knee); on imaging shows radiolucent lesion with sclerotic cortex; on histology, shows formation of disorganized/immature bone with no nuclear atypia and well-defined borders; classically presents as severe pain that is worse at night and relieved by aspirin

155
Q

osteoblastoma

A

benign bone tumor, generally located in vertebrae or at the metaphysis of long bones; on imaging shows large, expansile radio-lucency with mottling; on histology shows formation of disorganized/immature bone with no nuclear atypia and irregular borders; presents as pain that does not respond to aspirin

156
Q

osteochondroma

A

most common benign bone tumor, generally located at the metaphysis of long bones; juxtacortical, bony outgrowth from bone surface complete with marrow and cartilage cap; malignant transformation is rare, but more common in hereditary multiple exostoses (autosomal dominant: EXT-1 [8q24] mutation)

157
Q

chondroblastoma

A

bone tumor, generally located at the epiphysis

158
Q

Ewing sarcoma

A

AKA PNET, peripheral neuro-ectodermal tumor; second-most malignant bone tumor in childhood (third-most common overall), generally located at the diaphysis of long tubular bones, ribs, and pelvis; commonly presents in adolescents and young adults as painful, enlarging mass; imaging shows destructive, moth-eaten, permeative medullary lesion with soft tissue mass and “onion-skin” pattern of periosteal growth; histology shows primitive small round blue cells with neural phenotype, positive for membranous CD99, and abundant glycogen; hemorrhage and necrosis common; EWS gene usually involved, often t(11;22) (FLI-1-EWS fusion)

159
Q

giant cell tumor

A

benign, locally-aggressive bone tumor, generally located at the epiphysis of bones, esp. knee, proximal humerus, and radius; may destroy cortex of bone and extend into soft tissue; histology shows multiple, multi-nucleated giant cells

160
Q

non-ossifying fibroma

A

most common space-occupying lesion of bone, common developmental cortical effect; most commonly found at metaphysis of tibia and femur; imaging shows eccentric, lytic, peripheral sclerosis; histology shows “starry night” cells, may have a few giant cells; generally an incidental finding or associated with pathologic fracture

161
Q

fibrous dysplasia

A

developmental arrest of bone; monostotic lesions most commonly seen in adolescents in the ribs, mandible, and femur; polystotic lesions most commonly seen in infancy/childhood, cause crippling deformities and/or craniofacial involvement; imaging shows expansile, circumscribed lesion with thinned cortex and smooth “ground glass” appearance (may be multiple lesions); histology shows curvilinear “Chinese character” woven bone surrounded by fibroblastic stroma (no significant osteoblastic rimming)

162
Q

multiple myeloma

A

most common in pts >40 y.o.; dx. via PEPE/UPEP/serum free light chains; histology shows CD138+

163
Q

lymphoma of bone

A

generally presents as multiple lesions; histology shows CD20+ (B-cell lymphoma)

164
Q

unicameral bone cyst

A

on CT scan may show air/tissue/fluid level

165
Q

aneurysmal bone cyst

A

expansile cyst in the bone

166
Q

osteosarcoma

A

malignant mesenchymal matrix-forming bone tumor; generally found at the metaphysis of long bones, though may be found in flat bones and spine in older pts; bimodal age distribution; fast-growing, not often caught early, lung metastases are common; associated with hereditary Rb, Li-Fraumeni syndrome, overexpression of MDM2, INK4, and p16, and sites of bone growth/disease (as in Paget’s disease); imaging shows poorly-defined lesion with bone/cortical disruption, matrix deposition, soft tissue extension, and Codman’s triangle (formation of periosteum around tumor); histology shows irregular cells, diffuse chromatin, multiple/atypical mitoses; tx includes chemotherapy and surgical resection (in that order)

167
Q

desmoid firbomatosis

A

adult benign soft tissue tumor; rarely metastasizes, but very locally aggressive; imaging shows tumor that stays dark on T2 MRI (most tumors light up); histology shows beta-catenin+ cells; tx includes radiation and surgical resection

168
Q

soft tissue sarcoma

A

can be differentiated from a lipoma with a T2-weighted MRI (T2 is fat-suppressing)

169
Q

enchondroma

A

benign hyaline cartilage tumor, generally found in the medulla of the diaphysis of bones in the appendicular skeleton (small bones of hands and feet); usually asymptomatic incidental finding; imaging shows lytic, lobulated lesion with cortical thinning; histology shows lobules of hyaline cartilage with minimal atypia and sparse cellularity; usually requires no treatment

170
Q

chondrosarcoma

A

malignant tumor that produces a purely cartilaginous matrix; second-most common bone sarcoma, primarily affects older adults; generally found in the medulla of the metaphysis/diaphysis of long bones and in the pelvis and ribs; often present calcifications that may be lost in grade 3 tumors, along with cortical erosion and occasional soft tissue extension; imaging shows popcorn-like, moth-eaten appearance; histology shows highly cellular tissue with pleomorphic nuclei, frequent binucleation; dedifferentiated tumors possess no real cartilage; grade 3 may metastasize to lungs

171
Q

lipoma

A

benign soft tissue tumor originating in adipocytes; to be definitively diagnostic of lipoma, tumor must appear as fat on all MRI views; tumor generally has a membrane around it

172
Q

Ollier’s disease

A

genetic syndrome that causes appearance of multiple enchondromata that tend to have a regional distribution; may or may not be accompanied by severe skeletal malformation; point mutations in IDH1 or IDH2

173
Q

Maffucci’s syndrome

A

genetic syndrome that causes appearance of multiple enchondromata and angiomata with severe skeletal malformation and higher incidence of malignant transformation; point mutations in IDH1 or IDH2

174
Q

periosteal chondroma

A

benign hyaline cartilage tumor found in bones juxtacortically (i.e., located cortical surface under the periosteum)

175
Q

McCune-Albright syndrome

A

genetic syndrome characterized by polyostotic fibrous dysplasia, endocrinopathies, and cafe-au-lait spots; symptoms include sexual precocity, acromegaly, and Cushing’s syndrome; caused by activating germline mutations of GNAS, which causes excess cAMP/endocrine gland hyperfunction

176
Q

bone modeling

A

change in bone radial size and/or shape due to osteoclast and osteoblast activity; primary stimuli include strain (whole bone level) and shear stress (cellular level); modulated by Wnt/beta-catinin signaling, which stimulates osteoblast proliferation and matrix synthesis; when osteocytes are unloaded, they produce SOST, which inhibits Wnt

177
Q

scleratome

A

cells from the ventral part of a somite that are influenced by Shh and noggin; become precursors for bone, cartilage, tendon, endothelium, and meninges; contribute to the skeletal tissue forming mesenchyme of the trunk; during vertebral development the central compartment contributes to the pedicle and proximal ribs, ventral compartment to the vertebral body and intervertebral discs, dorsal to the dorsal part of neural arch and spinous process, and lateral to the distal rib; cells in medial part form meninges and blood vessels of the spinal cord; also contributes to rib formation

178
Q

somatic mesoderm

A

population of cells derived from the lateral mesoderm that contributes to skeletal forming mesenchyme in the trunk; includes precursors of sternal primordial

179
Q

paraxial mesoderm

A

mesoderm cells located next to/surrounding the notochord; precursor for all skeletal muscle

180
Q

ossification center

A

areas in bone primordial in which the ossification process begins; appear in both intramembranous and endochondral ossification

181
Q

bone age

A

the amount of epiphyseal cartilage retained within the skeleton

182
Q

somite

A

segment of paraxial mesoderm that possesses lots of cells with a variety of developmental fates, including cartilage, bone, skeletal muscle, and fibrous connective tissue; individual cellular specification depends on the location of the cell within the somite and the extrinsic signals; one of those fates is skeletal muscle of the trunk and limbs

183
Q

dermamyotome

A

cells from the dorsal part of a somite that are under the influence of Wnt signaling from the neural tube and surface ectoderm and maintain their epithelial structure; ultimately form myogenic cells and skin dermis

184
Q

somitocoel

A

central cavity of a somite around which epithelium-type cells arrange; becomes part of the sclerotome; ultimately contributes to vertebral joints, intervertebral discs, and proximal ribs

185
Q

centrum

A

ventral part of primitive vertebrae that ultimately develops into the vertebral body

186
Q

neural arch

A

dorsal projections of primitive vertebrae

187
Q

neurocentral junction

A

synchondrosis; cartilage plate that remains between the base of the neural arch and centrum of primitive vertebrae; allows growth of the vertebrae; ossifies prior to age 10

188
Q

costal and transverse processes

A

lateral projections of primitive vertebrae

189
Q

sternabrae

A

secondary segmentation of sternal primordium that occurs after fusion of cartilage bars; later refusing forms the body of the sternum, while the cranial-most sternebra remains unfused and becomes the manubrium

190
Q

resegmentation

A

process by which the loosely-arranged, cranial half of one somite merges with the tightly-packed, caudal half of the adjacent somite; leads to intersegmental vertebral development; allows skeletal muscles derived from dermomyotomes to span adjacent vertebrae, intersegmental arteries to pass across the bodies of vertebrae, and spinal nerves to reside near intervertebral discs

191
Q

occipital somites

A

lead to formation of occipital myotomes, which contribute to muscles in the head and neck (along with head mesoderm)

192
Q

myotome

A

population of myogenic cells that originate from the dorsomedial and dorsolateral edges of the dermamyotome that undergo epithelium to mesenchyme transformation (skeletal muscles of trunk and limbs); also contains a small population from the central portion of the dermamyotome (satellite cells); once cells become part of myotome, developmental potency is limited to skeletal muscle

193
Q

myoblast

A

post-mitotic myogenic cells that are committed muscle cells; myogenic regulatory factors induce differentiation and actin and myosin synthesis; secrete fibronectin once they have reached their definitive location in the embryo

194
Q

multinucleated myotube

A

fused chains of myoblasts that begin to form once myoblasts reach their final location within the embryo; requires M-cadherin

195
Q

satellite cell

A

myogenic stem cells that lie between the muscle fibers and the basement membrane and mediate postnatal growth of skeletal muscle; originate from the central portion of the dermamyotome, then undergo epithelial to mesenchyme transformation (after abaxial and primaxial domain cells); formation is mediated by Pax3 and Pax7

196
Q

myogenic cell

A

pre-myoblasts; precursor cells for muscles found in the myotome; differentiate from the mermamyotome based on Bmp4 (lateral mesoderm), Wnt, and Ssh (neural tube and notochord) signaling; some originate in the medial and lateral edges of the dermamyotome (precursors for skeletal muscle of trunk and limbs); others originate in the central portion of the dermamyotome (precursors for satellite cells)

197
Q

abaxial domain

A

cells originating from the ventrolateral portion of the dermamyotome that migrate across the LSF into somatic mesoderm, express MyoD, and form muscles of the abdominal wall, limbs, and infrahyoid

198
Q

primaxial domain

A

cells originating from the dorsomedial portion of the dermamyotome that remain adjacent to the neural tube/notochord, express Myf5 and MyoD, and form intrinsic muscles of the back and prevertebral and intercostal muscles

199
Q

epaxial

A

muscles that are innervated by dorsal primary rami of spinal nerves; includes intrinsic muscles of the back

200
Q

hypaxial

A

muscles that are innervated by ventral primary rami of spinal nerves; includes ventrolateral body wall and limb muscles

201
Q

cranial nerve

A

innervates muscles in the head and neck that originate from head mesoderm and occipital myotomes

202
Q

spinal nerve

A

innervates muscles in the trunk ad limbs that originate from the ventrolateral and ventromedial edges of the myotome

203
Q

lateral somite frontier

A

border of cells between the lateral edge of the somite and the medial edge of the lateral mesoderm; result of the interaction of different signaling molecules from somites, lateral mesoderm, and surrounding tissues; defines two microenvironments within which dermamyotome-derived myogenic cells may develop/differentiate

204
Q

limb bud and field

A

limb field is an area of somatic mesoderm located on each side of the embryo at specific axial levels; limb bud is an elevation of somatic mesoderm that forms as cells begin to produce Fgf-10, with core somatic mesoderm covered by a jacket of surface ectoderm

205
Q

apical ectodermal ridge

A

a thickened ridge of cells that runs from anterior to posterior along the interface between dorsal and ventral surfaces of the limb bud; induced by production of Fgf-10 by mesenchyme cells

206
Q

preaxial

A

cranial border of the limb along the anterior-posterior axis

207
Q

postaxial

A

caudal border of the limb along the anterior-posterior axis

208
Q

zone of polarizing activity

A

a group of somatic mesoderm-derived mesenchymal cells along the posterior border of the limb; secretes Shh to influence patterning along the anterior-posterior axis of the limb (can be mimicked by retinoic acid)

209
Q

talas bone

A

bone in the ankle; defects cause clubfoot

210
Q

hypothyroidism

A

causes cretinism/pituitary dwarfism; symptoms include skeletal and ear anomalies, mental retardation, and younger bone age

211
Q

achondroplasia

A

autosomal dominant condition characterized by dwarfism; caused by interference with epiphyseal plate development due to a mutation of FGFR-3; particularly affects the proximal segment of limbs; affected individuals have a normal-sized trunk, disproportionately shortened limbs, small/immature mid face, short fingers, and accentuated lordosis

212
Q

osteogenesis imperfecta

A

genetic mutation in expression of type I collagen; may be dominant or spontaneous; characterized by fragile skeleton, blue sclera, and other defects in ears, joints, spine, and teeth

213
Q

mucopolysaccharide disorders

A

family of metabolic diseases that are autosomal recessive; caused by absence/defect in an enzyme that leads to accumulation of GAGs in tissues and cells; causes dwarfism, bone irregularities, chronic/progressive distortions of face and skull, thickened/hairy skin, organ enlargement, and altered mental development

214
Q

dysraphism

A

failure of fusion of the neural arches of a vertebra

215
Q

spina bifida

A

series of conditions where one or a few adjacent vertebrae have unfused spinous processes; mildest form is spina bifida occulta, which is usually asymptomatic

216
Q

scoliosis

A

abnormal lateral curvature of the spine; congenital may be caused by malformed vertebrae, idiopathic forms are not

217
Q

kyphosis

A

exaggeration of flexion curvature of the spine; may be congenital due to vertebral malformation or acquired

218
Q

lordosis

A

exaggeration of extension curvature of the spine; may be congenital due to vertebral malformation or acquired

219
Q

Klippel-Feil sequence

A

AKA brevicollis; recessive disorder characterized by the presence of several fused cervical vertebrae; symptoms include shortened neck, low nuchal hair line, limited cervical spine mobility, genitourinary and cardiopulmonary defects, and hearing loss; may have undescended scapula, cervical rib, or scoliosis

220
Q

pectus excavatum

A

posterior depression of the sternum; may press the heart against the spine, may require surgery to correct

221
Q

cervical rib

A

accessory rib that may cause problems if it compresses the brachial plexus

222
Q

congenital torticollis

A

fixed rotation and tilting of the head to one side; more common on the right side; commonly co-morbid with hip dysplasia; may be caused by defect with SCM muscle or insufficient space for fetus in uterus; may also occur in older children secondary to infections or trauma to the SCM muscle

223
Q

prune belly syndrome

A

syndrome characterized by absence of abdominal muscles, undescended testicles, and bladder/urinary tract abnormalities; may be due to prenatal accumulation of fluid in the lower abdomen due to urinary system anomalies; occurs almost exclusively in males

224
Q

Poland sequence

A

absence of the pectoralis major muscle (usually sternocostal head) and pectoralis minor muscle; causes ipsilateral nipple to be displaced or missing, ipsilateral breast tissue to be hypo plastic or missing, and deficiency of subcutaneous fat/axillary hair; rib cage may also be hypoplastic; more common on right side and in males

225
Q

amelia

A

birth defect in which an entire limb is missing

226
Q

meromelia

A

birth defect in which part of a limb is missing; may be transverse type, in which there is truncation/amputation somewhere along the proximal-distal axis of the limb, or longitudinal type, in which certain parts may be missing along the anterior-posterior axis

227
Q

phocomelia

A

birth defect in which the distal segment of a limb is attached to a more proximal segment with the intervening segment missing; distal segment may be attached directly to the girdle; common in children born to mothers who had taken Thaladomide during pregnancy

228
Q

oligodactyly

A

a form of longitudinal-type meromelia in which there is an absence of the median portion of the distal limb segment, causing a lobster claw deformity; may affect the hand or foot

229
Q

syndactyly

A

complete or partial fusion of one or more digits; may be due to failure of interdigital apoptosis; opposite condition is sirenomelia, the result of fused limb fields

230
Q

polydactyly

A

duplication of digits; may be inherited via autosomal dominant or recessive pattern, usually bilateral

231
Q

brachydactyly

A

undergrowth/shortening of a digit due to lack of certain joints

232
Q

clubfoot

A

foot-ankle defect involving the talas bone; most common form is talipes equinovarus, in which the foot is plantar-flexed, inverted, and adducted due to displacement of the navicular, calcaneus, and cuboid bones around the talus; more common in boys

233
Q

Sprengel deformity

A

undescended, dysplastic scapula located at C4-T2 (should be at T2-T7); usually on left side, but may be bilateral; causes limited shoulder movement and disfigurement; most common in males; may be co-morbid with vertebral anomalies, absent/fused ribs, Klipple-Feil sequence, or scoliosis

234
Q

developmental dysplasia of the hip

A

condition in which the hip joint is easily dislocated due to underdevelopment of the femoral head and/or the hip socket; often accompanied by general joint laxity and breech births; may be caused in part by maternal hormones that soften connective tissue and abnormal position of the child in the uterus; may also be a hereditary component; when unilateral, it is more common on the left side

235
Q

cleidocranial dysplasia

A

hypoplasia or aplasia of the clavicles; usually bilateral and accompanied by other anomalies, including large head, small face, long neck, drooping shoulders, short/narrow chest, delayed fontanelle closure, incomplete pubic development, short fingers, and dental problems; autosomal dominant or spontaneous; caused by defects in Runx-2 gene

236
Q

Fgf/Fgf receptor

A

family of signaling molecules that influences limb development; Fgf-10 from the somatic mesoderm induces AER formation; Fgf-8, -4, and -2 are produced by the AER and maintain Fgf-10 production, which promotes mesenchyme cell proliferation while inhibiting cell differentiation

237
Q

Wnt

A

developmental signal from the neural tube, notochord, and surface ectoderm that induces dermamyotome formation, epithelium to mesenchyme transformation of dorsomedial DM cells, and Lmx-1 expression of dorsal mesenchyme during limb development

238
Q

noggin

A

a Bmp inhibitor originating from the neural tube that modulates the Bmp4 gradient across the dermamyotome; influences sclerotome development

239
Q

Pax 1, 2, 7, 9

A

Pax 1 and 9 are expressed by ventral somite cells and induce them to transform into mesenchyme/form the sclerotome; Pax7 induces satellite cell formation from myogenic cells of the central dermamyotome

240
Q

Shh

A

developmental signal from the neural tube and notochord that induces epithelium to mesenchyme transformation of dorsomedial DM cells; influences sclerotome development; secreted by the zone of polarizing activity to influence patterning along the anterior-posterior axis by inducing asymmetric, nested expression of Hox genes

241
Q

Hox

A

signal that mediates regionalization of the spine via nested expression along the cranial-caudal axis; determines the type and location of vertebrae formation; mediated by retinoic acid; null mutations cause cranialization, gain-of-function mutations cause caudalization; also contributes to axial positioning of limb fields and patterning for digit location

242
Q

Retinoic acid

A

mediates Hox signaling; can also mimic Shh signaling in the zone of polarizing activity

243
Q

myogenic regulatory factors

A

transcription factors that regulates development of muscle-forming mesenchyme; includes MyoD, Myf5, Myf4, myogenenin, and Mef2

244
Q

Pitx-1

A

transcription factor expressed in the lower limb

245
Q

Lmx-1

A

factor expressed in dorsal mesenchyme; induced by Wnt and radical fringe signaling from the dorsal ectoderm; contributes to dorsal-ventral patterning of the limbs

246
Q

Engrailed-1

A

factor expressed by ventral ectoderm that prevents Lmx-1 expression in the ventral mesenchyme; contributes to dorsal-ventral patterning of the limbs

247
Q

radical fringe

A

factor expressed in the dorsal ectoderm; induces Lmx-1 expression in the dorsal mesenchyme; contributes to dorsal-ventral patterning of the limbs

248
Q

Tbx 4, 5

A

Tbx 4 is a transcription factor expressed in the lower limb; Tbx 5 is a transcription factor expressed in the upper limb

249
Q

Sox9

A

transcription factor expressed by STFM destined to become cartilage and by mature cartilage

250
Q

RunX2

A

AKA Cbfa-1; transcription factor expressed by STFM destined to become bone

251
Q

recommended dietary allowance (RDA)

A

the average daily dietary nutrient intake level that is sufficient to meet the nutrient requirement for nearly all healthy individuals in a particular life stage and gender group

252
Q

tolerable upper limit (UL)

A

the highest average daily nutrient intake level that is likely to pose no risk of adverse health effects to almost all individuals in the general population

253
Q

adequate intake (AI)

A

the recommended average daily intake level based on observed or experimentally-determined approximations or estimates of nutrient intake by a group of apparently healthy people that are assumed to be adequate; used when RDA cannot be determined

254
Q

estimated average requirement (EAR)

A

the average daily nutrient intake level that is estimated to meet the requirements of half of the healthy individuals in a particular life stage and gender group

255
Q

dietary reference intakes (DRI)

A

a group of nutrient-based reference values that are used to assess and plan the diets of healthy people; includes RDA, UL, AI, and EAR

256
Q

calciferol

A

AKA vitamin D; two forms, ergocalciferol (VD2) and cholecalciferol (VD3); cholecalciferol is form made by mammals from cholesterol, has 100% activity; preferred supplementation form; ergocalciferol has 100% activity but is less stable than D3, may be less effective; VD3 can be found as calcitriol

257
Q

international unit (IU)

A

unit of measure for a substance, allows for easier comparison across substances

258
Q

sprain

A

ligament injury

259
Q

strain

A

muscle injury

FPP/MSS (5 decks)

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