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Osteogenesis imperfecta
Congential hereditary disorders Problem in synthesis of Type 1 collagen Leads to defects in bone, ears, joints, teethSevere form --> May have fractures at birth Less severe --> fracture early in childhoodMy develop hearing loss --> fracture of middle ear
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Osteoporosis
Decrease in bone mass Can't maintain sufficient mechanical supportMalnutritin (calcium) and endocrine disturbances (estrogen decline) may have an impact
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Osteomalasia/Rickets
Vitamin D deficiencyInadequate mineralization of bone matrix Decrease in bone densityOsteomalasia- adult form; weight bearing bone deformitiesRickets- child form; "pigeon breast", lumbar lordosis, bowed legs
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Osteitis Fibrosa Cystica
- Associated w/ advanced primary hyperparathyroidism
- 1) early stage
- 2) osteitis fibrosa
- 3) osteitis fibrosa cystica
- Lesion: osteoclastic resporption of bone w/ fibrous replacement
- Formation of cysts
- Mandible & maxilla initially affected
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Osteitis Deformans (Paget's disease)
- Disordered bone remodeling --> mosaic pattern in bone
- Mono or poly-ostotic
- Unexplained pain & bone fractures & bone lysis
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Osteomyelitis
- inflammation of bone from infection
- Staphylococcus aureus
- Suppurative inflammation, edema & bone necrosis
- Either by: Hematogenous route: in children, bacteriemia in long bones
- Direct bone penetration: wounds, fractures, surgery
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Assymetric cartilage growth
- Part of epiphyseal plate grows faster than the other
- Usually hereditary
- Can also be due to trauma/forces near epiphyseal plate
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Scoliosis: List
- lateral tilt of the spine from the T1 level
- May result from herniated disk or painful spasm of muscles along spine
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Scoliosis: Gibbus
- Angular deformity noted w/ a collapsed vertebra
- Causes: metestatic malignancy of the spine, tuberculosis
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Scoliosis: Flattening of the lumbar curve
Suggests: a herniated lumbar disk or ankylosing spondylitis
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Scoliosis: Kyphosis
- may be 1st indication of osteoporosis in elderly
- accompanied by pain in vertebral area & radiologic signs of osteoporosis
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Transverse Fracture
Force perpendicular to long axis of the bone
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Compression fracture
Force along the axis
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Spiral Fracture
Torsional force
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3 phases of fracture healing
- Inflammatory: formation of granulation tissue; callus @ periphery of post-fracture; hemorrage clot
- Reparative Phase: Pluripotent cells into fibroplasts & osteoblasts
- Remodelling Phase: Reorganization & restoration; osteoblasts replaced w/ osteoclasts
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Osteoid osteoma
- Type of Osteoblastic tumor
- Benign
- Painul
- Occurs in diaphyses of long bones (femur, tibia)
- Patients under 30
- exacerbated by alcohol
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Osteosarcoma
- Type of Osteblastic tumor
- Most common primary bone tumor
- Affects young ppl
- Common sites: femur, tibia, humerus, 75% near the knee
- Pain
- Lung metastasis
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Enchondroma
- Type of chondrogenic tumor
- Benign
- In small bones: hands & feet
- In young adults
- Pain, swelling, pathologic fractures
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Chondrosarcoma
- Type of Chondogenic tumor
- Malignant
- Occurs ~ after age 35
- Affects chondroblasts w/in the bone
- Pelvic bones, ribs, vertebrae
- Prognosis better than for osteosarcoma
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Giant cell tumor
- Patients over 20 yr old
- Ends of long bones
- Pain in local joints
- Locally agressive
- Possibly malignant
- Bone or cartilage formation
- Multinucleated giant & fibroblast-like cells
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Ewing sarcoma
- Rare
- Extremely Malignant
- Early metastasisPoor prognosis
- Occurs in older children
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Pyogenic arthritis
- Infective
- Involves larger joints (hip, knee, ankle)
- May become chronic & destructive if not treated
- From a distant infection
- In children: Hemophilus influenzae
- In adults: streptococci, or staphilococci
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Osteoarthritis
- Degeneration of articular cartilage
- Most common joint diease
- Associated with aging
- May occur after trauma or infection of joint
- Slowly progressive joint stiffness
- Spur formation in distal interphalangeal joints
- Nodular swelling
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Rheumatoid Arthritis
- Idiopathic, possible autoimmune
- Chronic & systemic
- Symptoms: fatigue, low-grade fever, progrssively deforming
- Affects multiple, bilateral, symmetric, small joints of feet and hands
- Hands have claw-like appearance, also ulnar deviation
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Ankylosing Spondylitis
- Spondyloarthropathy
- Onset: in young men
- Seronegativity for rheumatoid factor
- Localized: Sacrum & vertebral column
- Asymmetric joint involvement
- Inflammation of pariarticular tendons
- Carditis
- Aortitis
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Gout Arthritis
- Transient, recurrent attacks of acute arthritis
- Monosodium urate crystals in synovial spaces, joint capsules, bursae, heart valves, kidney
- Trophi- inflammatory foci
- May develop due to elevated uric acid blood levels
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Duchenne's Muscular Dystrophy
- X-linked recessive (males affected, females carriers)
- Lack of dystropohin
- Lack of sarcolemmal protein (strengthens muscle cells)
- Progressive muscular weakness; apparent by age 3
- Pts can't walk by age 10
- Involved muscles APPEAR hypertrophied; from replacement by fibrofatty tissue --> pseudohypertrophy
- Death by age 20
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Becker Muscular Dystrophy
- X-linked recessive
- Milder form of Duchenne's muscular dytrophy
- Dystophin is mutated into less-effective form
- Later onset
- May not be noticed until after age 25
- Most pts live normal life span
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Myotonic dystrophy
- Autosomal Dominant
- 2 forms:
- a) extreme weakness from birth w/ death in neonatal period
- b) adult form: muscular weakness, atrophy, myotonia (tonic spasm after stimulation), baldness, testicular atrophy, dementia
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Facio-scapulo-humeral dystrophy
- Autosomal dominant
- Not lethal
- Varies
- Usually appears during adolescence
- Progressive weakness of face, shouldr & upper arms
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Limb girdle dystrophy
- Autosomal recessive
- Hips or shoulders involved
- Weakness leads to progressive disability sometimes during adult life
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Mysthenia Gravis
- Acquired autoimmune disease
- Weakness & extreme muscular fatigue
- Antibodies attack ACH receptor of postsynaptic membrane & neuromuscular junction
- Receptors degraded
- Common in females ~ age 20
- Begins in eyes (ptosis, double vision)
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Rhabdomyolysis
- Myoglobin leaks out of skelatal muscle
- Acute or chronic
- Sometimes after exercise (overdone)
- Other causes: crush injury, electrical injury, heat stroke, seizure, virus
- Myoglobin appears in urine
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