5/26/06

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Osteitis Fibrosa Cystica (von Recklinghausen's dz of bone) is caused by increased levels of:

PTH d/t primary or secondary hyperparathyroidism; cystic spaces in bone are lined w/osteoclasts, brown d/t bleeds = "brown tumor of bone"

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Achondroplasia is the most common cause of _ and is inherited in a _ fashion, it is d/t _:

dwarfism (short limbs only); AD; premature sealing of narrow long bone epiphyses with the metaphasis

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Osteogenesis imperfecta is a group of gene mutations causing:

defective collagen synthesis & "brittle bone dz" (AD is mc); they have multiple fxs even at birth and blue sclera

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Osteopetrosis is an _ in bone mass d/t _:

increase; failure of osteoclast resorption of bone; it forms "marbelized bone;" most severe form is AD; fxs, narrow marrow (anemia), blindness, deafness d/t CN compression

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Paget's disease of bone is most common in this population:

elderly; causes skeletal deformities, pain d/t fx, high output cardiac failure d/t AV Shunts in bone; hearing loss d/t thickness of bone in ear; Osteosarcomas w/mosaic patterns

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The most common cause of avascular necrosis is:

steroid-induced vascular compression

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Caisson Disease leads to necrosis via

thrombosis and embolism; it is caused by gas emboli resulting from decompression syndrome (ex: rapid ascension from scuba diving)

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Osteoporosis causes a decrease in:

bone mass; d/t dec synth or inc resorption of bone (physical inactivity, inc thyroid levels, postmenopausal, inc cortisol or dec Ca levels); Fxs in spine and other wt bearing bones; Radiolucent on xray

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Scurvy is d/t a lack of Vit C and defective _ and _ hydroxylation:

proline, lysine (necessary for collagen synthesis); impaired bone formation, painful subperiosteal hemorrhage, osteoporosis, bleeding gums

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Rickets and Osteomalacia are both related to a deficiency in

Vit D (diet, sun, "renal osteodystrophy"); Craniotabes (thin skull), late fontanelle closure, dec height, Rachitic ROSARY from costochondral thickening, pigeon breast; Radiolucency in adults

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Avascular necrosis is the death of:

osteocytes and fat via: vascular compression, interruption (fx), thrombosis (sickle cell, caisson dz), injury; It results in Joint Pain, OA, esp head of femur (Legg-Calve-Perthes)

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Legg-Calve-Perthes disease is AVN of the:

head of femur

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Pyogenic osteomyelitis infection is most commonly d/t:

Staph aureus via hematogenous spread, adjacent injury, or open fx/surgery; Fever, pain, tender (metaphysis of distal femur, proximal tibia or humerus; forms Sequestrum and Involucrum

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Sickle cell patients get osteomyelitis from:

salmonella, although S. aureus is still #1

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IVDA get osteomyelitis from:

Pseudomonas

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Tuberculosis osteomyelitis spreads to bone from

elsewhere in the body; usu seen in hips, long bones, hands, feet, and spine (Pott's dz)

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Tumors of bone and cartilage are

rare; usu in lower limbs of young males; Metastasis is more common (80%) than 1* d/t prostate, breast and lung cancers

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Osteochondroma is the most common _ tumor of bone

benign; in metaphyses of long bones; men <25yo in distal femur or proximal tibia

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The only way that osteochondromas undergo malignant transformation is when:

they are the familial variant characterized by multiple lesions; these form OSTEOSARCOMAS

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Giant cell tumor of bone is most common in:

women age 20-55; it is benign w/ "SOAP Bubble" appearance on xray; spindley cells w/multinuclear giant cells occupy the distal femur or proximal tibia epiphyses

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Osteomas are commonly found as _ tumors that protrude from the:

benign; skull/face of men; it is mature/dense tissue

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Osteoid Osteomas are identified on xray as a "_ _ _":

Painful RadioLUCENT Nidus (surrounded by osteoblasts & vascular tissue); commonly in 20-30yo males (femur/tibia)

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Osteosarcomas are bad boys

malignant & in teenage boys; felt as "knee pain" w/METASTASIS to LUNG; growth under periostium forms "Codman's Triangle" on xray

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Predisposing factors for osteosarcoma include (4):

1. Paget's dz of bone, 2. Li-Fraumeni syndrome (mutations of p53 on chrom 17), 3. Familial retinoblastoma, 4. Bone infarcts

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Chondrosarcoma is a malignant _ tumor:

cartilage; lobulated translucent tumor w/necrosis and calcification in mid-aged men in axial skeleton; Xray shows localized bone destruction

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The most common bone sarcoma in children is:

Ewing's

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Ewing's sarcoma is a malignant _ tumor w/a gene translocation on:

Cartilage; t(11;22); it forms "Homer-Wright Pseudorosettes;" 10-15yo boys (long bones, ribs, pelvis, scapula); Metastasis; Responds to chemo; painful, warm, swollen

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Fibrous dysplasia forms "_ figures" on xray

Chinese d/t replacement of bone w/disorganized fibrous tissue; may be a/w precosious puberty and cafe au lait spots

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Metastatic bone cancer forms _ lesions unless arising from _ or _

lytic (lung, kidney); breast or prostate; a/w ecoptic PTHrP

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Cafe au lai spots are seen in (3):

Fibrous dysplasia of bone, Peutz-Jeghers syndrome, Neurofibromatosis type I

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Two factors to consider in an acutely painful joint include: Infection and Urate deposition; they can be distinguished by:

aspiration of joint fluid w/evaluation for WBCs, bacteria on gram stain or crystals

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Osteoarthritis may affect _ joint:

only one; ex: Distal InterphalangealJoints (DIPs) of hand; pain usu gets worse as day goes on

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Rheumatoid arthritis is usu:

bilateral and symmetric and does NOT affect DIP joints; pt is usu stiff in the morning, but relieved as day goes on

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OA is the degeneration of:

joint cartilage, followed by growth of surrounding bone; it is the MCC of arthritis; primary form has no risks, 2* is d/t trauma, metabolic disorder, or inflammation; KNEE is mc site; OSTEOPHYTES cause Heberden's (DIP) and Bouchard's (PIP) Nodes

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RA is an _ _ reaction in _ and _;

autoimmune inflammatory; joints, tendons; forms PANNUS of synovial hyperplasia over articular cartilage; Swan-neck and Boutonniere deformities (d/t inflammation, muscle atrophy, contracture); spares DIP joints

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Rheumatoid Factor is an _ Ab to _

IgM; IgG; more common in women; a/w HLA-DR4

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Ankylosing Spondylitis has a high a/w with _

HLA-B27 in Males; chronic low back pain, calcification of spinal ligaments, "Bamboo Spine;" also; apical lung fibrosis, aortic insufficiency, cauda equina syndrome

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Psoriatic Arthritis may present similar to _, but has an _ association

RA; HLA-B27; M=F; Asymmetric involvement of DIPs, PIPs, feet, ankles, knees; "PENCIL in CUP" deformity of proximal phalanges

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Reiter's Syndrome has a classic triad of:

Urethritis, Congunctivitis, Acute assymetric Arthritis; HLA-B27; 20-40yo males

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Gout is an inflammatory rxn caused by:

urate crystal deposition w/IgG opsonization & phagocytosis that triggers inflammation; can be precipitated by large meal or excess EtOH; PODAGRA of big toe, ear, Achilles; renal tubule damage; STRONG NEGATIVE BIREFRINGENCE under polarized light

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Non-Gonoccocal Septic Arthritis is most commonly a/w these 2 bugs:

Staph aureus and Strep species; MONOARTICULAR (knee); chills/fever, rash; G+ Stain of synovial fluid

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Gonococcal Septic Arthritis is the most common arthritis in:

sexually active adults; MONOARTICULAR; chills/fever, papular/pustular rash; G(-) Stain of synovium

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Lyme Disease Arthritis is a late manifestation of infection with

Borrelia burgdorferi; causes ERYTHEMA CHRONICUM MIGRANS (expanding bull's eye rash); KNEE, mycardial, pericardial and neurologic signs

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Hypertrophic Osteoarthropathy, a sequelae of systemic dz) manifests as:

clubbing of digits and periostitis; a/w Chronic lung dz, Cirrhosis, Inflammatory bowel dz, Congenital cyanotic heart disease

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Lesch-Nyhan Syndrome is an X-linked deficiency of:

Hypoxanthine-guanine phophoribosyl transferase (HGRPT) causing elevated URIC ACID levels, and manifests as MR, GOUT, Self-mutilation

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Treatment of Lesch-Nyhan Syndrome

Allopurinol; it blocks xanthine oxidase to prevent uric acid formation

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Pseudogout is caused by deposits of:

calcium pyrophosphate crystals; presentation is similar to gout, but crystals have weak POSITIVE birefringence under polarized light

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Systemic Lupus Erythematosis

immune complex deposit in vessels of most organs; Libman-Sacks endocarditis (mitral valve lesions on both sides); Wire-loop membranous GN; arthralgia/-itis; Malar rash; dsDNA Ab; anti-Sm; low C3 & C4; false+ syphilis; anti-cardiolipin Ab hypercoagulable

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Marfan's syndrome is an AD disease d/t a deficiency of _, resulting in:

fibrillin; skeletal, visual, cardiovascular defects; Arachnodactyly, Ectopia lentis (dislocation), mitral valve prolapse, proximal aortic aneurysm/dissection/valvular insufficiency

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Ehlers-Danlos Syndrome is d/t a defect in collagen and _ formation, which causes:

Elastin; hemorrhage; Hyperextensibility of Joints/Skin; fragility of tissue

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Scleroderma (progressive systemic sclerosis) causes diffuse _ and _ of almost every organ d/t:

fibrosis, degeneration; autoimmune reaction w/ Anti-scl-70 (ANA) Ab, or anti-centromere in CREST; Thick skin, fixed facies, claw-like sclerodactyly of hands, Raynauds, esophageal fibrosis

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What does CREST stand for?

Calcinosis, Raynaud's phenomenon, Esophageal dysmotility, Telangiectasia; more common in women; a/w anti-centromere Ab

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Sjogren's Syndrome is an auto-immune reaction related to the following antibodies and clinical triad:

anti-Ro (ssA), anti-La (ssB); Xerostomia, Xerophthalmia, presence of other CT/AI disease (esp RA);

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Polymyositis is a unique autoimmune inflammatory disorder b/c it is a/w:

malignancy; there is proximal weakness of extremities, high CK levels, and when skin is involved it's called dermato-

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Mixed Connective Tissue Disease is rarely a/w

renal involvement (as opposed to other CT dzs); anti-nRNP is highly specific; a/w Raynaud's, arthralgia, muscle inflammation, esophageal dysmotility

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Sicca syndrome involves only

xerostomia and xerophthalmia; an other autoimmune disease

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Nerve damage that causes degeneration of the distal segment is d/t

dispersion of Nissl substance as cell body undergoes chromatolysis

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When a nerve is damaged, muscle continues to atrophy for _ weeks; in the PNS _ proliferate, in CNS _ cells proliferate

3; Schwann (help direct regenerating neuron); Astrocytes (forming scar that PROHIBITS regeneration)

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If regenerating nerve fibers don't find the degenerating segment, what forms?

a painful neuroma

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Successful regeneration of a nerve occurs at a rate of _mm/_; allowing...

1mm/day; muscle to return to normal size

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Muscles innervated by C5, C6

suprascapular, upper & lower subscapular, musculocutaneous, axillary

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Which muscles are innervated by C8, T1?

medial pectoral, medial brachial cutaneous, medial antebrachial cutaneous, ulnar

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Erb-Duchenne Palsy is related to what kind of branchial plexus lesion?

upper; C5-C6; it causes HYPER-ADDUCTION of arm in the "Waiter's tip" position (extended, adducted, forearm pronated)

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Klumpke's palsy is a lesion the _ brachial plexus?

lower (C7-T1); it causes HyperABDUCTION of arm; Claw hand d/t ulnar nerve; wrist/hand dysfxn; a/w Horner's syndrome

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Horner's syndrome is a combo of:

unilateral ptosis, miosis, anhydrosis d/t lesion in cervical sympathetic chain; seen w/ Pancoast's tumor and lower brachial plexus injuries

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Claw hand is most noted d/t lesion of the

ulnar nerve; commonly in kids w/Epiphyseal separation at medial epicondyle of humerus; there is Weak finger ADDuction, medial hand numbness, dysfxn of 4th, 5th digits

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Radial nerve palsy causes a

wristdrop deformity w/inability to extend the wrist or fingers; a/w fx of mid-humerus OR lead poisoning

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The radial nerve is also involved in a more proximal pain syndrome:

lateral epicondylitis (tennis elbow)

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Carpal tunnel syndrome is d/t _ wrist motion that compresses the _ nerve:

repetitive; median (C5-T1) via tendons in flexor retinaculum; Flexion = Pain; Extension = Pain relief; symptoms are often worse at night

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The median nerve is also damaged in fractures to the:

distal 1/3 of the humerus and elbow, causing total loss of thumb opposition; also via slashing the wrist

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Medial Winging of the scapula is d/t injury to the:

long thoracic nerve (C5,6,7); mastectomies can cause this injury; Pt has limited arm ABDuction/flexion; Serratus anterior paralysis; Medial scapula protrudes if pt pushes on wall

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Lateral Winging of the Scapula is d/t lesion of this nerve:

Accessory nerve, leading to trapezius paralysis

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Anterior Shoulder dislocation can damate the _ nerve:

axillary; usu d/t forced abduction and extension; loss of innervation to deltoid w/compromised shoulder flexion & extension; there is a palpable depression under acromion

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A fracture to the surgical neck of the humerus from falling onto elbow can damage the _ nerve:

axillary; similar to damage caused by shoulder dislocation: loss of innervation to deltoid, poor shoulder flexion/extension, palpable depression under acromion

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Anterior Cruciate Ligament Tears are detected by a positive:

anterior draw sign (lower leg pulled foward w/knee flexed); can manifest as Terrible Triad

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The Terrible Triad includes:

Torn Anterior Cruciate Lig, Medial Collateral Lig, medial meniscus

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Clavicle fractures occur in the _ third of the bone with the following displacement:

middle; proximal segment goes upward, distal segment goes downward; causes severe pain

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Compartment syndrome occurs when

hemorrhage fills the fascial separations in a limb, compressing neurovascular structures; usu d/t crush or fx injury;

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Inversion sprain of the ankle is the...

mc ankle injury and is caused by force inversion; stretches/tears lateral ligaments, esp ANTERIOR TALOFIBULAR

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Scaphoid fracture may lead to

avascular necrosis if untreated d/t retrograde perfusion; tenderness is in anatomical snuffbox

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What makes up the anatomical snuffbox?

extensor pollicis longus (dorsal), extensor pollicis brevis and abductor pollicus longus (palmar); scaphoid and trapezium (base)

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Subacromial bursitis is the most common

bursitis in the body; simply inflammation of the bursa

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Tennis elbow is d/t a sprain of the

radial collateral ligament (lateral epicondyle); pain occurs w/wrist extension and forearm supination; median nerve

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Waddling gait is a limp d/t _ _ nerve injury

superior gluteal; affects gluteus medius and minmus; pt cannot ABDuct the thigh; causes "Trendelenburg's sign"

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Golf elbow involves:

medial epicondyle

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Trendelenberg's sign results in tilting of the pelvis to the side:

opposite that of the injury when standing on the injured foot (also seen in hip dislocation or fx of neck of femur)

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Smooth Muscle Fibers (maintain lumens of respiratory tract, GI tract and blood vessels)

central nucleus, no bands, dense bodies (no z-lines), no T-tubules, Gap junctions, High regeneration, Ca from SR (released by IP3) and ECF, Ca binds Calmodulin

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Cardiac Muscle Fibers

Central nucleus, bands, Z-line (actin converges), T-tubules at Z-line, Intercalated discs btw cells, No regeneration, Ca from SR, ECF; Ca-induced Ca release, Ca binds Troponin

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Skeletal Muscle Fibers

Peripheral nucleus, Bands, Z-line, T-tubules at A-I junctions (triads), No cell-cell communication, NMJ, some regeneration, Ca from SR via depolarization of T-tubule, Ca binds Troponin

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Type I Muscle Fibers

sustained force; wt-bearing muscles; abundant lipid stores, few glycogen stores, aerobic/mitochondrial respiration, slow twitch, red color d/t blood supply

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Type 2 Muscle Fibers

sudden movment/directed action; few lipid, but many glycogen stores; anaerobic respiration (few mitochondria) easily fatigued); Fast Twitch; White coloration

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Sarcomeres < Myofibril <Muscle fiber < Muscle Fasciculus

Makes up a skeletal muscle

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Which bands shorten with muscle contraction?

H and I

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Muscular pathology is more commonly d/t

metabolic dyscrasias (induced or inherited) than neoplasms

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The embryonal type of rhabdomyosarcoma is related to

sarcoma botryoides, resulting in a "bunch of grapes" appearance in the vagina

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Rhabdomyosarcoma

most common soft tissue sarcoma of childhood; malignant and aggressive

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Leiomyosarcoma

uncommon malignant "cigar shaped" nuclei;

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Leiomyoma

most common tumor in women; benign; usu in uterus

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Increased ion gap metabolic acidosis is usu d/t

salicylate poisoning, alcohol intoxication, acute renal failure, diabetic ketoacidosis, aspirin ingestion

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Normal anion gap metabolic acidosis is d/t

diarrhea and renal tubular acidosis

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Lactic acidosis causes

inc anion gap Metabolic Acidosis d/t inc serum concentration from shock, sepsis, methanol, metformin, or liver failure; it can cause coma or death

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Myasthenia Gravis is an autoimmune disease involving:

antibodies againt the ACh receptor in NMJ; a/w HLA-DR3 and thymus disorders; weakness begins with ptosis, facial, ocular, limb proximal weakness; mc in women; Improves with EDROPHONIUM test

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Duchenne's Muscular Dystrophy is inherited as an:

X-linked recessive deficiency in DYSTROPHIN; causes lack of actin stabilization; Progressive proximal muscle weakness; PSEUDOHYPERTROPHY of calves; Gower's maneuver; Inc CK and Lactate DH; death via cardio/respiratory failure

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Becker's Muscular Dystrophy is similar to

Duchenne's but less severe

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Mitochondiral Myopathy is transmitted through the...

mtDNA from mother; "Ragged Red Fibers" are seen on muscle biopsy; Proximal muscle weakness;

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McArdle's Type V glycogen storage disorder:

deficiency in glycogen phosphorylase; affects Skeletal muscle only; weakness/cramping after exercise; no rise in lactate; No MR; Myoglobinuria in later life; OK prognosis; High [normal glycogen] in muscle

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Pompe's Disease: Type II Glycogen Storage Disorder

lysosomal a-glucosidase deficiency; Inborn defect; Affects Liver, Heart AND Muscle; Excess [glycogen] in abnormal cytosolic vacuoles; Normal blood sugar, CARDIOMEGALY & Death

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Von Gierke's Disease: Type I Glycogen Storage Disorder

glucose-6-phosphatase deficiency; Affects Liver, Kidney, Intestine; SEVERE fasting HYPOGLYCEMIA; Fatty liver/hepatomegaly; Hyperlacticacidemia & Hyperuricemia; Normal Glycogen structure, with INC STORAGE

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Keloid Scarring is characterized by

excessive, raised scarring that occurs after minor trauma; more common in African Americans; genetic predisposition

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Xanthomas form from the accumulation of

foam-filled histiocytes in the dermis; a/w HYPERLIPIDEMIA or Lymphoproliferative disorders; common on Achilles tendon and Extensor Tendons of fingers

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Seborrheic Keratosis

common, benign neoplasm in elderly; Raised papules and plaques that appear to be "pasted on"

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Albinism is d/t a lack of

melanin pigment production; Ocular type is limited to eyes (X-linked); Oculocutaneous type involves skin, eyes, hair (Auto Recessive; lack of tyrosinase enzyme needed to convert tyrosine to DOPA)

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Albinism predisposes a person to

actinic keratosis, basal cell carcinoma, squamous cell carcinoma and malignant melanoma

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Hemangiomas are malformations of

large vessels that form masses of blood-filled channels; "Port Wine Stain" birth marks are most common manifestation; Cavernous hemangiomas are a subset

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Cavernous Hemangiomas are a/w

von Hippel-Lindau disease; large caverous vascular spaces

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Acanthosis nigricans is a thickening and

hyperpigmentation of axilla, neck, groin; the malignant type is a/w underlying adenocarcinoma (usu lung)

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Actinic Keratosis is a series of dysplastic changes that occur before the onset of

squamous cell carcinoma; the buildup of keratin from sun exposure leads to a "Warty" appearance

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Squamous cell carcinoma appears as

microscopic islands of neoplastic cells with "Whorls of Keratin Pearls;" Malignant, rare to metastasize; seen as Ulcerated Scaling Nodules

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Basal Cell Carcinoma appears as

a pearl-like papule on sun-exposed areas; it is the most common skin malignancy; on histo is has a dark cluster with "Palisading Peripheral Cells;" rare to metastasize

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Malignant Melanoma is an

aggressive tumor arising from melanocytes; a/w sun exposure; has 2 growth patterns (benign radial and aggressive vertical); a/w S-100 tumor marker

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Anticancer therapies for skin

5-FU, Dactinomycin, Methotrexate, Vincristine

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Anticholinesterase Inhibitors

Edrophonium, Neostigmine, Physostigmine

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Antigout therapies

allopurinol, colchicine, sulfinpyrazone

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Muscle Relaxants

Baclofen, Benzodiazepine, Dantrolene

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